Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern ...
结婚前或生育前进行CRPPA相关Walker-Warburg综合征全外显子基因检测的目的是为了了解携带者的基因状态,以便评估他们生育孩子的风险。Walker-Warburg综合征是一种罕见的遗传性疾病,主要影响中枢神经系统和眼睛的发育。该疾病是由多个基因突变引起的,其中一些突变与CRPPA(Congenital Muscular Dystrophy with Structural Brain D...
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 ...
Walker-Warburg syndromePrenatal ultrasoundOcular abnormalitiesWalker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalo...
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 ...
Walker–Warburg SyndromeCongenital muscular dystrophyGeneral anesthesiaBackground and objectives Walker–Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement. The diagnosis is established by the ...
CRPPA相关Walker-Warburg综合征基因检测的正确度 CRPPA(Congenital Muscular Dystrophy with Cerebellar Involvement and Reticular Formation Abnormalities)是一种罕见的遗传性疾病,与Walker-Warburg综合征有关。Walker-Warburg综合征是一种严重的神经肌肉疾病,特征包括肌肉无力、智力发育迟缓、眼球异常和脑部异常。 基因检测是...
Muscular dystrophy has been pointed out as an additional abnormality in postnatal cases. By contrast, the lack of demonstrable muscle changes in the fetal period must be emphasized. Those cases illustrate practical problems in the ultrasound and pathologic diagnosis of WWS in the fetal period....
Walker-Warburg syndrome. Report of two cases. The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (... M,M,Vasconcelos,... - 《Arquivos De Neuro Psiquiatria》 被引量: 10发表: 1999年 加...
We describe a postnatally diagnosed case of Walker‐Warburg syndrome – a form of congenital muscular dystrophy with lissencephaly and eye abnormalities. We reviewed the literature to highlight its clinico‐radiological diagnostic features and discuss the difficulties encountered with ...